disease list ttchuu

8/2/2019 Disease List Ttchuu

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Disease Name Deficiency/

Accumulation/Mutation

KEYWORDS BLAH Stuff

Leber Inherited Optic

Neuropathy

Complex 1 Mutation of

ETC.

y BilateralBlindness at

Mid-age

yMitochondrialdisease=mater

nally inherited

Phenylketonuria Buildup of Phenylalanine y Deficiency ofPhenylhydrox

ylase

y =Noconversion to

tyrosine

y Mousyodor,Hypopigmentation

Tyrosine= precursor of

melanin ,T3,T4,

cetacholamines.

Megaloblastic Anemia Deficiency of Folic Acid in

adults.

In women who are

preg. The baybays

could have neuraltube defects like Spina

Bifida.

Tyrosine is reqd in format

of neural tube.

An indicator of Folic aciddeficiency is Fi-GLU in urin

Sickle Cell Anemia Glu-6 mutation on B-chain

Glu-Valine

Hb disease, Val gets

buried into the cell

forming a cleft. The

RBC polymerizes and

turns sickle. Cannot

pass throughcapillaries=vasooculsi

ve crisis.

Non-conservative missens

mutation coz nature of A.a

is changing.

Autosomal Recessive.

Amyloidosis Due to misfolded proteins Accumulation of

misfolded proteins

forms insoluble fibrils

-> cause cell death.

Dumped in heart,brain etc

Osteogenesis Imperfecta Collagen type 1 disorder Brittle bones,Scurvy Will do in class

Kwashiorkor Low protein Since they dont eatlots of

No protein, no

Albumin to mobilize

water, so water leakseverywhere and

stomach gets big.

Growth retardation.

Alzheimers Disease APP protein converted to

AB-40 and AB-42.

Ab40 and 42 form

fibrils and amyloidplaques which turn

into neurofibrillary

tangles(nft) which

A hyperphosphorylated TA

protein is recruited afterfibrils are formed.


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kills neurons.

Memory Impairment

(Ma name is Lisaremem)

Parkinsons Disease Alpha Synuclein gene

Mutation

Due to lack of

Dopamine in the

substantia nigra.

Mutation of A-

synuclein causes

misfolding which

increases B-sheets

and they form B-

Sandwichhh.

Presence of Lewy

bodies in brain.

Remember TRAP

Tremors

Rigidity

Akinesa-movmenet

Postural probs

Alpha synuclein is a motif.

Prion Diseases

Mad cow disease

Transmissible

Spongyform

Encephalopathy

Due to prions- PrP

Misfolding diseasae

Prp misfolds to PrP

scrappy and increase

in B-sheets.

Dementia

CJO croutchfeld Jacobs

disease

Misfolding disease 1. Due to prionprotein

2. Leads to increasein beta sheets and

forms fibrils

In humans is Kuru,

Scurvy Vitamin C deficiency 1) Easy Bruising

2) Subcutaneous

extravasations of

blood (BLEEDING

GUMS)

Vitamin C is a reducing age

required in Hydroxylation

Proline and Lysine

(hydroxyproline,

hydroxylysine) in collagenfibers.

Vit C deficiency results in

greatly decreasing the

tensile strength in the fib

Thalassemias Imbalanced

in

synthesis of

&

Globin

chains

Thalassemias: 1) chain is

decreased or absent. -Chain is normal.

2) -Globing gene on Chromosome 11.

Thalassemias: 1) chain is

decreased or absent. -chain is normal.

2) -Globin gene on Chromosome 16.

Thalassemia is a problem of too few

globins synthesized, whereas sickle-cellanemia is a problem of synthesis of an

incorrectly functioning globin. Also

beneficial for patient with Malaria like

Sickle Cell Anemia.

Thalassemias(common

Asians):

1. Only I gene functional:HbH (B tetramer, B4)

2. No gene functional:Hydrops Fetalis(gamm

Thalassemias (common

Mediterraneans)1. B minor one allele

functional

2. B-major (coolys anemno allele func.

Treatment:

1) Transfusion 2) Iron

Chelation


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HbC

(Hemoglobin C

Disease)

Glu6lys These patients do not suffer from

infarctive crises, and no specific therapy

is required

Lysine replaces Glutamate

HbSC

Hemoglobin SC

Disease

In this disease some B-globin chains

have the sickle cell mutation whereas

the other B-globin chain carry the

mutation found in HbC disease.

Patients remain well until

they suffer an infarctive cr

this crisis often follows

childbirth or surgery and m

be fetal.

HbM

Methemoglobinemias

1. Methemoglobin = oxidized heme(Fe3+)

2. Oxidation due to oxidizing drugs(chlorate and nitrates) or

methemoglobin reductase deficiency

Symptoms:

1) Chocolate colored blood, hypoxia,

anxiety, headache, dyspnew, in rare

cases, coma and death can occur.

Treatment:

Methylene blue

Which is oxidized as (Fe3+

reduced.

CO Poisoning 1. Has high affinity 4 Hb2. Tissue experience Anoxia3. Treatment: oxygen tank

CO forms stable complex w

Hb and therefore would no

bind/release any O2.

HereditarySpherocytosis

Lack of spectrin and ankyrin bindingproteins.

Trtment is splenectomy

Common among European

Hydrops Fetalis

Barts Hb

All 4 alpha

genes not

working

Its an alpha thalassemia

Still born baby

Ask an Asian.

Cooleys Anemia Alpha

thalesemia

No Beta-allelle

Most severe type of Beta-Thalesemia

Hereditary

Hemochromotosis

Overabsorpt

ion of Iron

due to HFE

gene

mutation.

Fe Overload,

Aspartate amino transferase +

Alanine amino transferase leaks outa

hepatocytes. Also increase in

bilirubin due to increased heme

degradation = hyperbilirubinimia.

Incomplete penetrance=yo

could have it on your

genotype and not phenoty

Autosomal Recessive.

HFE gene is responsible fo

iron absorption.

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